piperidines and Abnormalities--Multiple

We present 2 new patients with the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and treatment. MMIHS, as reported in 43 cases, is usually lethal. Most children die during the first year of life, and only 3 children survived their first year. We report the 6th pair of sibs with the disease. Overall, 17 patients reported have had sibs with MMIHS or the parents were consanguineous; 4 times the parents were first, cousins, confirming that this is an autosomal recessive disorder. The present 2 children, whose parents also were first cousins, were of different sex. They had typical MMIHS with abdominal distension due to pronounced megacystis, hydronephrosis, microcolon, and microileum, involving the distal part of the ileum, malrotation of the gut, and intestinal hypoperistalsis. Neither surgery nor medical treatment was successful and the children died at the age of 19 days and 2 1/2 months, respectively. There is no cure for the disease. However, a new protkinetic drug, Cisapride might be worth trying in these cases. Prenatal ultrasound diagnosis of MMIHS might be possible.

Topics: Abnormalities, Multiple; Cisapride; Colon; Consanguinity; Female; Genes, Lethal; Genes, Recessive; Humans; Ileum; Infant, Newborn; Male; Peristalsis; Piperidines; Syndrome; Urinary Bladder

Topics: Abnormalities, Multiple; Adolescent; Anesthesia, Intravenous; Anesthetics, Intravenous; Cerebellar Diseases; Cerebellum; Eye Abnormalities; Female; Humans; Intellectual Disability; Kidney Diseases, Cystic; Oral Surgical Procedures; Piperidines; Propofol; Remifentanil; Retina

Topics: Abnormalities, Multiple; Airway Management; Airway Obstruction; Anesthesia, Inhalation; Bone Diseases, Developmental; Catheters, Indwelling; Child; Contraindications; Craniofacial Abnormalities; Female; Humans; Laryngeal Masks; Methyl Ethers; Neuromuscular Blocking Agents; Piperidines; Radiology Department, Hospital; Radiology, Interventional; Remifentanil; Septo-Optic Dysplasia; Sevoflurane; Subclavian Vein

Topics: Abnormalities, Multiple; Androstanols; Anesthesia; Anesthetics, Inhalation; Anesthetics, Intravenous; Desflurane; Facies; Female; Humans; Infant, Newborn; Intubation, Gastrointestinal; Intubation, Intratracheal; Isoflurane; Neuromuscular Nondepolarizing Agents; Piperidines; Prenatal Diagnosis; Propofol; Remifentanil; Rocuronium; Stomach; Syndrome

Topics: Abnormalities, Multiple; Administration, Intranasal; Administration, Topical; Anesthetics, Local; Conjunctiva; Deep Sedation; Eye Injuries, Penetrating; Heart Defects, Congenital; Humans; Infant; Lidocaine; Limb Deformities, Congenital; Male; Midazolam; Piperidines; Remifentanil; Spinal Dysraphism; Syndrome

Topics: Abnormalities, Multiple; Bone and Bones; Child; Conscious Sedation; Dwarfism; Face; Foot Deformities; Humans; Hypnotics and Sedatives; Laryngoscopy; Male; Neck; Piperidines; Remifentanil; Syndrome

Freeman-Sheldon syndrome, or distal arthrogryposis type 2A, is a rare congenital myopathy and dysplasia characterised by multiple contractures, abnormalities of the head and face, defective development of the hands and feet and skeletal malformations. The facial muscle contracture produces the typical 'whistling face' appearance. Anaesthetic issues include difficult intravenous access, difficult airway and postoperative pulmonary complications. Although an association with malignant hyperthermia has been suggested, this has not been confirmed. We report the management of a seven-year-old girl with Freeman-Sheldon syndrome undergoing anterior and posterior spinal surgery and describe a successful anaesthetic regimen based on a total intravenous anaesthesia technique with remifentanil and propofol without neuromuscular blocking agents. The child had an uneventful anaesthetic and postoperative course. We believe the presence of the myopathy warranted the use of a 'non-triggering' anaesthetic, as suxamethonium and volatile agents may be associated with significant complications such as muscle rigidity and rhabdomyolysis in myopathic patients, even in the absence of malignant hyperthermia.

Topics: Abnormalities, Multiple; Anesthesia, General; Anesthetics, Intravenous; Arthrogryposis; Blood Pressure; Child; Craniofacial Abnormalities; Electroencephalography; Female; Heart Rate; Humans; Monitoring, Intraoperative; Orthopedic Procedures; Pain, Postoperative; Piperidines; Propofol; Remifentanil; Respiration, Artificial; Scoliosis; Spine; Syndrome

Topics: Abnormalities, Multiple; Acidosis; Anesthesia; Anesthetics, Inhalation; Anesthetics, Intravenous; Atracurium; Blood Gas Analysis; Child, Preschool; Chromosome Disorders; Chromosomes, Human, Pair 9; Female; Fundoplication; Gastroesophageal Reflux; Humans; Intellectual Disability; Intubation, Intratracheal; Laryngoscopy; Methyl Ethers; Neuromuscular Nondepolarizing Agents; Piperidines; Propofol; Rare Diseases; Remifentanil; Sevoflurane

Patient-controlled analgesia (PCA) using intravenous opioids is increasing in popularity for children aged 5 years and over. To our knowledge there are no reports on the use of PCA in children with remifentanil in the postoperative period. We report successful use of remifentanil for intravenous (IV) PCA in a child scheduled for suprasellar arachnoid cystectomy with Axenfeld-Rieger syndrome who needed good postoperative analgesia because of accompanying serious problems.

Topics: Abnormalities, Multiple; Analgesia, Patient-Controlled; Analgesics, Opioid; Arachnoid Cysts; Child; Eye Diseases; Genes, Dominant; Heart Diseases; Humans; Infusions, Intravenous; Male; Monitoring, Intraoperative; Pain Measurement; Pain, Postoperative; Piperidines; Remifentanil; Syndrome

Topics: Abnormalities, Multiple; Adjuvants, Anesthesia; Agenesis of Corpus Callosum; Anesthesia; Anesthetics, Inhalation; Anesthetics, Intravenous; Anticonvulsants; Child; Eye Diseases, Hereditary; Female; Glycopyrrolate; Humans; Intellectual Disability; Laryngoscopy; Midazolam; Nitrous Oxide; Oral Surgical Procedures; Piperidines; Remifentanil; Spasm; Syndrome

We describe a continuous flow mode of ventilation for repair of type I esophageal atresia in an infant. This type of atresia is defined by distal stenosis of the esophagus with a proximal blind pouch and no connection to the tracheobronchial tree. In traditional repair procedures the surgical approach is by thoracotomy, but newer videoassisted thoracoscopic techniques have introduced novel challenges to ventilatory mechanics in these low-weight infants. The literature contains little discussion of the anesthetic management or respiratory mechanics of these patients. Trying to maintain adequate tidal volume and oxygenation while thoracoscopic maneuvers take place increases the risk of barotrauma. Single-lung ventilation with a continuous flow respirator was effective in the case we report.

Topics: Abnormalities, Multiple; Anesthesia, Intravenous; Anesthetics, Intravenous; Barotrauma; Carbon Dioxide; Esophageal Atresia; Humans; Hydrogen-Ion Concentration; Infant; Intraoperative Care; Intraoperative Complications; Lung Compliance; Male; Oxygen; Piperidines; Pressure; Remifentanil; Respiration, Artificial; Thoracic Surgery, Video-Assisted; Tidal Volume

Topics: Abnormalities, Multiple; Adjuvants, Anesthesia; Anesthetics, Inhalation; Anesthetics, Intravenous; Atropine; Cleft Palate; Developmental Disabilities; Face; Female; Humans; Infant; Intellectual Disability; Intubation, Intratracheal; Methyl Ethers; Microcephaly; Midazolam; Muscle Hypotonia; Nitrous Oxide; Piperidines; Remifentanil; Sevoflurane; Syndrome

We report the case of a newborn baby with a type IV laryngotracheo-oesophageal cleft and the anaesthetic management during the rigid bronchoscopy that was performed at 5 days of age. After anaesthetic induction with sevoflurane and atropine, the child was maintained with sevoflurane 2-2.5% and remifentanil at an infusion rate of 0.5 microg.kg(-1).min(-1). Ventilation was managed through the lateral port of the bronchoscope. The patient breathed sevoflurane and oxygen/N2O spontaneously via a Jackson-Rees circuit. To prevent the stomach from filling up with anaesthetic gases, a Foley catheter was placed orally into the stomach. The Foley balloon was inflated and retracted until it sealed the gastro-oesophageal junction. Tracheal intubation was performed after bronchoscopy to allow suture of the stomach into two chambers. Oxygenation was adequate with no air leakage, with spontaneous ventilation. The Foley catheter was removed afterwards and the patient awakened. We review the literature on different ways of managing the airway in these cases and protecting it from gastric aspiration during ventilation.

Topics: Abnormalities, Multiple; Adjuvants, Anesthesia; Anesthesia, General; Anesthetics, Inhalation; Anesthetics, Intravenous; Atropine; Bronchoscopy; Esophagus; Female; Humans; Infant, Newborn; Intubation, Intratracheal; Larynx; Methyl Ethers; Piperidines; Remifentanil; Sevoflurane; Trachea

The teratogenic potential of cis-1-[4-(p-menthane-8-yloxy)phenyl] [corrected] piperidine (YM9429) was evaluated using CD (SD) rats. YM9429 induced cleft palate and specific skeletal variations including accessory cervical and lumbar ribs or excessive formation of the 7th lumbar vertebra by oral treatment during the organogenetic periods. No visceral or external malformations were induced, and no embryo/fetal mortality or fetal growth retardation was observed. Maternal plasma biochemical examination revealed decreases of cholesterol and phospholipid levels during days 15-17 of pregnancy after the treatment. The results suggest that YM9429 is a potent and specific teratogen inducing cleft palate in CD rats, and the reduced maternal plasma levels of cholesterol and phospholipid during the period of palatine closure are related to the induction of cleft palate.

Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Animals; Cholesterol; Cleft Palate; Female; Fetus; Lumbar Vertebrae; Phospholipids; Piperidines; Pregnancy; Rats; Rats, Sprague-Dawley; Ribs; Teratogens

Three piperidine alkaloid containing plants, Conium maculatum (poison-hemlock), Nicotiana glauca (tree tobacco) and Lupinus formosus (lunara lupine), induced multiple congenital contractures (MCC) and palatoschisis in goat kids when their dams were gavaged with the plant during gestation days 30-60. The skeletal abnormalities included fixed extension or flexure of the carpal, tarsal, and fetlock joints, scoliosis, lordosis, torticollis and rib cage abnormalities. Clinical signs of toxicity included those reported in sheep, cattle and pigs--ataxia, incoordination, muscular weakness, prostration and death. One quinolizidine alkaloid containing plant, Lupinus caudatus (tailcup lupine), on the other hand, which is also known to cause MCC in cows, caused only slight signs of toxicity in pregnant goats and no teratogenic effects in their offspring.

Topics: Abnormalities, Multiple; Alkaloids; Anabasine; Animals; Bone and Bones; Cleft Palate; Female; Goat Diseases; Goats; Nicotiana; Piperidines; Plant Extracts; Plant Poisoning; Plants, Toxic; Pregnancy; Pyridines; Teratogens

Fetal movement, observed by ultrasound imaging, was significantly reduced (P less than or equal to 0.001) in pregnant goats gavaged with Conium seed and Nicotiana glauca and temporarily reduced with fresh Conium plant. Conium seed and Nicotiana glauca induced cleft palate and multiple congenital contractures in 100% of the kids born to pregnant goats gavaged with these plants. Multiple congenital contractures included torticollis, scoliosis, lordosis, arthrogryposis, rib cage anomalies, over extension, and flexure and rigidity of the joints. However, in goats gavaged with fresh Conium plant, fetal movement was inhibited for only about 5 hours after each individual dosage and gradually returned to control levels 12 hours after dosing. Fetal malformations in this group were limited from modest to moderate contractures of the front limbs, which resolved by 8-10 weeks post partum. No cleft palates were induced. Fetal movement was not inhibited in goats fed Lupinus caudatus and no cleft palates or multiple congenital contractures were induced in their offspring. The duration of the reduction in fetal movement appears to be an important factor in the severity and permanence of the deformities, particularly with cleft palate, spinal column defects, and severe joint deviation and fixation.

Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Administration, Oral; Alkaloids; Animals; Cleft Palate; Female; Fetal Movement; Goats; Maternal-Fetal Exchange; Piperidines; Pregnancy

Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Animals; Azepines; Chick Embryo; Hindlimb; Imidazoles; Neuromuscular Junction; Nicotine; Piperidines; Pyridines; Pyrimidines; Spine; Structure-Activity Relationship